Affiliations: Tokyo Women' Medical University Institute for Integrated Medical Sciences, Tokyo, Japan
Note:  Corresponding author: Toshiyuki Yamamoto, Tokyo Women's Medical University, Institute for Integrated Medical Sciences, 8-1 Kawada-cho, Shinjuku-ward, Tokyo 162-8666, Japan. Tel.: +81 33353 8111; Fax: +81 3353 6793; E-mail: [email protected]
Abstract: Wolf-Hirschhorn syndrome (WHS) encompasses multiple congenital anomalies and mental retardation and is caused by partial deletions in the short arm of chromosome 4. Prenatal-onset growth deficiency is one of the WHS characteristics. Assessing and recording growth profiles of patients with WHS were the aims of this study. Anonymous questionnaire surveys were conducted with cooperation of a WHS peer-support group in Japan, and data from 34 WHS patients (12 males and 22 females; age, 1–23 years) were retrospectively collected. Height, weight, and head circumference (occipitofrontal head circumference) were measured and plotted on the standard growth charts of healthy Japanese children. Results indicated that most WHS patients showed growth retardation under the 3rd percentile since the first year of life and extremely poor body-weight gain after pubertal age. These findings are characteristic of WHS patients. The assessed growth patterns in this study could help monitoring and documentation of growth of WHS patients.